Mendelian Exome Sequencing Project (Mendelian Exome)

Studies using next generation sequencing technologies have yielded surprising and important discoveries regarding the genetic bases of certain Mendelian diseases. However, there are hundreds of heart/lung/blood/sleep-related Mendelian disorders in the Online Mendelian Inheritance in Man (OMIM) database for which the genetic bases are still unknown. To accelerate genetic discovery of Mendelian disorders, the National Heart, Lung, and Blood Institute (NHLBI) released PAR-11-301 inviting applications to access the exome sequencing capacity of the Mendelian Disorders Genome Centers (co-funded by NHGRI andNHLBI). Awardees will provide DNA samples collected from patients with suspected Mendelian or monogenic disorders, and receive sequencing data to advance investigations of the genetic basis of Mendelian or monogenic disorders that significantly affect heart, lung, and blood (HLB) systems.